Variant: rs1553292105 

    present in Gene: TGFB2;TGFB2-AS1
    present in Chromosome: 1
    Position on Chromosome: 218346929
    Alleles of this Variant: TTGCTCCAGGAGAAGGC/-

rs1553292105 in TGFB2;TGFB2-AS1 gene and Muscle hypotonia PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

PMID 25163805 2014 Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

PMID 24193348 2014 A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

PMID 26017485 2015 First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

PMID 24577266 2014 Loeys-Dietz syndrome: a primer for diagnosis and management.